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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Lethal Congenital Contracture Syndrome 9 (LCCS9)
Alias:
Lccs9
Contracture Syndrome, Lethal, Congenital, Type 9
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
致死性先天性挛缩综合症9,也称为lccs9,与致死性先天性挛缩综合症和先天性挛缩有关。与致死性先天性挛缩综合症9有关的重要基因是ADGRG6(粘附G蛋白偶联受体G6)。附属组织包括骨骼肌和肺,相关表型为膈肌异常和多关节挛缩综合症。
Related ID:
MALACARDS:LTH029
OMIM:616503
MESH:D001176
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
11
1
LTH029
Medical Symptom
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Categorization
Description
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No data available
Gene & Mutation
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Name
MGI
Related Gene
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Publications
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References Literature
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No Data Found!
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